Canonical Allele Identifier: CA10409742

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191730C>T , CM000685.2:g.49191730C>T	GRCh38
NC_000023.10:g.49048187C>T , CM000685.1:g.49048187C>T	GRCh37
NC_000023.9:g.48935131C>T	NCBI36
NG_012532.1:g.13475G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.649G>A MANE Select	NP_003170.1:p.Gly217Ser
ENST00000263233.9:c.649G>A MANE Select	ENSP00000263233.4:p.Gly217Ser
NM_003179.2:c.649G>A	NP_003170.1:p.Gly217Ser
ENST00000263233.8:c.649G>A	ENSP00000263233.4:p.Gly217Ser
ENST00000376303.6:c.*401G>A	ENSP00000365480.2:n.*401G>A
ENST00000472598.5:c.318G>A
ENST00000479808.5:c.649G>A	ENSP00000418169.1:p.Gly217Ser
ENST00000689634.1:n.2236G>A
ENST00000692723.1:n.675G>A
XM_011543950.1:c.328G>A	XP_011542252.1:p.Gly110Ser
XM_011543951.1:c.295G>A	XP_011542253.1:p.Gly99Ser